Putting money where it matters most
Donations made to Leo’s Lighthouse directly fund pediatric research, therapies, and family support programs. Leo’s Lighthouse is working with top universities, scientific labs, and other foundations to finance this invaluable research. Every dollar you donate goes towards initiatives we believe will have the most impact, all of which are focused on improving the short- and long-term quality of life for these children, and eventually, lead to a cure.
Dr. Wendy Chung is one of the world’s leading human geneticists and the director of the clinical genetics program at Columbia University, a co-director of the molecular genetics diagnostics lab, and head of a research laboratory in the division of molecular genetics investigating the genetic basis for a variety of Mendelian and complex traits.
Dr. Chung is in the process of setting up a Rare Disease Lab at Columbia University. We look to support her efforts by funding a portion of her lab.
simons foundation (SIMONS VIP)
The Simons Variation in Individuals Project (Simons VIP) was originally started to identify and study large numbers of individuals sharing recurrent genetic variants known to increase the risk of developing autism spectrum and other neurodevelopmental disorders. Longer-term goals are to use these data to develop targeted interventions and focused clinical care.
Leo’s Lighthouse has partnered with Simons VIP to promote data collection and assist research on ASXL3 and Bainbridge-Ropers Syndrome. Our goal is to get 100 BRS Families complete natural history information into the Simons VIP registry, and Leo’s Lighthouse will partner with researchers to publish this ground breaking data in 2019.
university of michigan
Dr. Stephanie Bielas runs the Bielas Lab at the Department of Human Genetics (University of Michigan Medical School). She is currently studying BRS and developing advanced modeling in efforts to provide functional and clinical relevance to a number of neuro-developmental disorders.
Leo’s Lighthouse has begun funding Dr. Bielas’s lab, which is conducting research on inhibiting ubiquitin on histone H2A, which could possibly improve the quality of life someday for those suffering from ASXL3 mutations.
BAINBRIDGE-ROPERS (BRS) FAMILY MEETINGS
One of the first steps in understanding a rare disease is to address the lack of information. Bringing affected families and researchers together in a setting like a 'Family Meeting' is invaluable. Individual and group research can be conducted, evaluations can be made, and critical information can be shared among doctors, researchers, advocates, and family members.
Leo’s Lighthouse, in cooperation with Dr. Wendy Chung, Simons VIP, and Columbia University, hosted the first BRS Family Meeting in New York City this July 2018. 24 BRS families were in attendance, from 6 countries, marking this the first official gathering of doctors, researchers, and BRS children ever and a significant moment in our fight against this disease.
The 2nd Annual BRS Family Meeting will take place this summer at the University of Michigan, on July 19-21, 2019. For more information please email: email@example.com